Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.

ABSTRACT

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 11, 00, 000 live births. It is linked to a single-gene TBX5 "protein-producing" mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association.